Common Postzygotic Mutational Signatures in Healthy Adult Tissues Related to Embryonic Hypoxia.

ABSTRACT: Postzygotic mutations are acquired in normal tissues throughout an individual's lifetime and hold clues for identifying mutagenic factors. Here, we investigated postzygotic mutation spectra of healthy individuals using optimized ultra-deep exome sequencing of the time-series samples from the same volunteer as well as the samples from different individuals. In blood, sperm, and muscle cells, we resolved three common types of mutational signatures. Signatures A and B represent clock-like mutational processes, and the polymorphisms of epigenetic regulation genes influence the proportion of signature B in mutation profiles. Notably, signature C, characterized by C>T transitions at GpCpN sites, tends to be a feature of diverse normal tissues. Mutations of this type are likely to occur early dur

SUBMITTER: Hong Y 

PROVIDER: S-EPMC9510933 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature